Phenotype #0000292671

Individual ID 00399565
Associated disease CMTX1
Phenotype details see paper; ..., distal lower limb amyotrophy (HP:0008944); lower limb muscle weakness (HP:0007340); distal lower limb amyotrophy (HP:0008944); areflexia (HP:0001284); pes cavus (HP:0001761); steppage gait (HP:0003376); mixed demyelinating and axonal polyneuropathy (HP:0007327); reduced tendon reflexes (HP:0001315)
Diagnosis/Initial CMT1X
Inheritance Familial, X-linked dominant
Diagnosis/Definite -
Age/Examination 37y (37 years)
Age/Diagnosis -
Age/Onset 27y
Phenotype/Onset gait disturbance (HP:0001288)
Protein -
Owner name Maeve Soen
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Maeve Soen
Date created 2022-01-21 20:40:17 +01:00 (CET)
Date last edited 2022-01-24 11:42:41 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.